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Autoimmune Hypoparathyroidism

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Hypoparathyroidism

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Abstract

Autoimmune hypoparathyroidism is a disease of hypocalcemia caused by inadequate secretion of parathyroid hormone (PTH). The decrease in PTH can be due to either the destruction of the parathyroid glands or autoantibodies which activate the calcium-sensing receptor, resulting in suppression of PTH secretion. Autoimmune hypoparathyroidism can be acquired or part of a monogenic syndrome. Acquired non-monogenic autoimmune hypoparathyroidism may present with other autoimmune diseases, such hypothyroidism, and is a diagnosis of exclusion. Inactivating pathogenic variants in the autoimmune regulator (AIRE) gene cause autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1) or polyglandular autoimmune (PGA) syndrome type 1. Clinical diagnosis of APECED is based on the presence of two diseases in the classic triad of hypoparathyroidism, adrenal insufficiency, and chronic mucocutaneous candidiasis. New data show that the addition of urticarial eruption, enamel hypoplasia, and intestinal malabsorption to the diagnostic criteria may allow for earlier diagnosis. Here, we present a case of a 9-year-old boy with a history of mucocutaneous candidiasis and failure to thrive who presented with hypoparathyroidism. He was diagnosed with APECED, and two of his older siblings were found to also have hypoparathyroidism.

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Conflict of Interest

 The authors declare no conflicts of interest.

Acknowledgments

Work in the authors’ laboratory is supported by the Intramural Research Program of the NIH, NIDCR.

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Authors and Affiliations

  1. Skeletal Disorders and Mineral Homeostasis Section, National Institutes of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA

    Kelly L. Roszko & Rachel I. Gafni

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  1. Kelly L. Roszko
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  2. Rachel I. Gafni
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Correspondence to Rachel I. Gafni .

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Editors and Affiliations

  1. Department of Medicine, Division of Endocrinology, Northwell Health/Lenox Hill Hospital, New York, NY, USA

    Natalie E. Cusano

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Roszko, K.L., Gafni, R.I. (2020). Autoimmune Hypoparathyroidism. In: Cusano, N. (eds) Hypoparathyroidism. Springer, Cham. https://doi.org/10.1007/978-3-030-29433-5_5

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  • DOI: https://doi.org/10.1007/978-3-030-29433-5_5

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-29432-8

  • Online ISBN: 978-3-030-29433-5

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